Białecka Monika, Droździk Marek, Honczarenko Krystyna, Gawrońska-Szklarz Barbara, Stankiewicz Jan, Dabrowska Ewa, Kubisiak Maciej, Kłodowska-Duda Gabriela, Opala Grzegorz
Department of Experimental and Clinical Pharmacology, Pomeranian Medical University, Szczecin, Poland.
Eur Neurol. 2005;53(2):68-73. doi: 10.1159/000084302. Epub 2005 Mar 7.
Recent reports have proved that genetic factors play a role in the pathogenesis of sporadic Parkinson's disease (PD). It has been suggested that polymorphisms in monoamine oxidase B (MAOB) and catechol-O-methyltransferase (COMT) might increase the risk of PD. A total of 210 Polish patients with sporadic PD and 152 healthy controls were studied. The MAOB and COMT polymorphisms were identified using the polymerase chain reaction-restriction fragment length polymorphism method. The MAOB allele and genotype frequencies in PD patients did not differ significantly from the controls. A statistically lower frequency of the COMTLL genotype in patients with parkinsonism was found. The combined haplotype of the MAOB G (G/G) and COMTHL genotype showed a fourfold increase (p < 0.05) in the risk of PD in female patients in this Polish population.
近期报告已证实，遗传因素在散发性帕金森病（PD）的发病机制中起作用。有人提出，单胺氧化酶B（MAOB）和儿茶酚-O-甲基转移酶（COMT）的多态性可能会增加患PD的风险。共研究了210例波兰散发性PD患者和152名健康对照者。采用聚合酶链反应-限制性片段长度多态性方法鉴定MAOB和COMT多态性。PD患者的MAOB等位基因和基因型频率与对照组无显著差异。发现帕金森病患者中COMTLL基因型的频率在统计学上较低。在该波兰人群的女性患者中，MAOB G（G/G）和COMTHL基因型的联合单倍型显示患PD的风险增加了四倍（p < 0.05）。
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